A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283998



Internal ID22382355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59975084..59975145hg38UCSC Ensembl
chr14:60441802..60441863hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2633n152
Supporting Variantsnssv14466471
SamplesHG00733
Known GenesLRRC9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283998
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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